Incidental Mutation 'R9198:Il18rap'
| ID |
698015 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il18rap
|
| Ensembl Gene |
ENSMUSG00000026068 |
| Gene Name |
interleukin 18 receptor accessory protein |
| Synonyms |
AcPL accessory protein-like) |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9198 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
40554522-40590865 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 40582177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 366
(T366M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027237]
|
| AlphaFold |
Q9Z2B1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027237
AA Change: T366M
PolyPhen 2
Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000027237
Gene: ENSMUSG00000026068
AA Change: T366M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Blast:IG_like
|
31 |
144 |
2e-36 |
BLAST |
|
IG
|
159 |
240 |
2.94e0 |
SMART |
|
IG
|
257 |
354 |
1.35e0 |
SMART |
|
transmembrane domain
|
363 |
385 |
N/A |
INTRINSIC |
|
TIR
|
406 |
561 |
3.68e-35 |
SMART |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.5%
|
| Validation Efficiency |
97% (61/63) |
| MGI Phenotype |
FUNCTION: Interleukin-18 (or interferon-gamma inducing factor) is a proinflammatory cytokine that induces cell-mediated immunity following microbial infection. This gene encodes a member of the interleukin-1 receptor family. The encoded protein is an accessory subunit of the receptor for interleukin-18 and mediates signaling through this cytokine. Mice lacking this gene exhibit a defective cell-mediated immune response. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous null mice exhibit defective IL-18-mediated immune responses such as the inability of splenocytes, T helper 1 cells and neutrophils to produce cytokines in response to IL-18. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
G |
5: 8,167,583 (GRCm39) |
|
probably null |
Het |
| Adamts9 |
A |
T |
6: 92,837,170 (GRCm39) |
S1164T |
probably benign |
Het |
| Bcat1 |
A |
T |
6: 144,985,222 (GRCm39) |
I140N |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,957,129 (GRCm39) |
T2832A |
probably benign |
Het |
| Brca2 |
A |
T |
5: 150,459,977 (GRCm39) |
E417D |
possibly damaging |
Het |
| Ccdc88b |
T |
C |
19: 6,831,268 (GRCm39) |
D558G |
possibly damaging |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cenpf |
G |
T |
1: 189,388,987 (GRCm39) |
T1615K |
probably damaging |
Het |
| Cep250 |
T |
C |
2: 155,830,354 (GRCm39) |
|
probably null |
Het |
| Clec4d |
T |
C |
6: 123,251,757 (GRCm39) |
F213S |
probably damaging |
Het |
| Clip4 |
G |
A |
17: 72,117,884 (GRCm39) |
G310R |
probably damaging |
Het |
| Csmd1 |
G |
A |
8: 15,962,430 (GRCm39) |
R3255W |
probably damaging |
Het |
| Ctsm |
T |
C |
13: 61,687,612 (GRCm39) |
D82G |
probably damaging |
Het |
| Cyp26a1 |
A |
G |
19: 37,686,790 (GRCm39) |
T81A |
probably damaging |
Het |
| Dld |
A |
G |
12: 31,390,885 (GRCm39) |
V187A |
probably benign |
Het |
| Dmrt2 |
T |
A |
19: 25,655,477 (GRCm39) |
Y359N |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,846,570 (GRCm39) |
N2914S |
probably benign |
Het |
| Dpyd |
A |
T |
3: 118,553,303 (GRCm39) |
|
probably null |
Het |
| Fgl2 |
A |
C |
5: 21,577,920 (GRCm39) |
Q69P |
probably damaging |
Het |
| Gadd45gip1 |
A |
T |
8: 85,560,780 (GRCm39) |
I132F |
probably damaging |
Het |
| Gm15446 |
T |
C |
5: 110,090,743 (GRCm39) |
C332R |
probably damaging |
Het |
| Gm15737 |
A |
T |
6: 92,856,640 (GRCm39) |
E23V |
unknown |
Het |
| Gm5111 |
A |
G |
6: 48,567,037 (GRCm39) |
H84R |
unknown |
Het |
| Golga3 |
G |
A |
5: 110,355,619 (GRCm39) |
S991N |
probably benign |
Het |
| H2-M10.3 |
A |
G |
17: 36,678,919 (GRCm39) |
Y50H |
probably damaging |
Het |
| Hivep2 |
C |
T |
10: 14,005,621 (GRCm39) |
H740Y |
probably benign |
Het |
| Ints7 |
T |
A |
1: 191,351,872 (GRCm39) |
S860R |
probably benign |
Het |
| Lipi |
T |
A |
16: 75,362,461 (GRCm39) |
T217S |
possibly damaging |
Het |
| Lrrc2 |
G |
T |
9: 110,791,722 (GRCm39) |
C158F |
probably benign |
Het |
| Lrrc30 |
T |
C |
17: 67,938,854 (GRCm39) |
D242G |
probably benign |
Het |
| Map1a |
A |
T |
2: 121,133,854 (GRCm39) |
M1557L |
probably benign |
Het |
| Matn2 |
A |
G |
15: 34,423,924 (GRCm39) |
E594G |
probably damaging |
Het |
| Mfsd12 |
T |
C |
10: 81,198,544 (GRCm39) |
L345P |
probably damaging |
Het |
| Mmp24 |
A |
G |
2: 155,640,041 (GRCm39) |
R124G |
probably benign |
Het |
| Ngef |
T |
A |
1: 87,406,797 (GRCm39) |
H240L |
unknown |
Het |
| Nmur1 |
T |
G |
1: 86,315,256 (GRCm39) |
D203A |
probably benign |
Het |
| Nt5c3 |
T |
C |
6: 56,859,955 (GRCm39) |
Q328R |
probably benign |
Het |
| Ogfr |
T |
C |
2: 180,232,850 (GRCm39) |
|
probably null |
Het |
| Or4k1 |
A |
T |
14: 50,377,990 (GRCm39) |
Y35* |
probably null |
Het |
| Or52ac1 |
T |
A |
7: 104,245,635 (GRCm39) |
Y251F |
probably damaging |
Het |
| Or5h19 |
A |
G |
16: 58,856,263 (GRCm39) |
V279A |
probably benign |
Het |
| Osbpl10 |
G |
A |
9: 115,061,211 (GRCm39) |
W588* |
probably null |
Het |
| Pask |
A |
T |
1: 93,265,205 (GRCm39) |
S17T |
possibly damaging |
Het |
| Pfkfb3 |
C |
T |
2: 11,491,084 (GRCm39) |
R170K |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,069,937 (GRCm39) |
C960R |
unknown |
Het |
| Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Rfx7 |
T |
C |
9: 72,524,163 (GRCm39) |
L451P |
probably damaging |
Het |
| Rimbp2 |
T |
A |
5: 128,883,552 (GRCm39) |
E76V |
probably damaging |
Het |
| Rock2 |
A |
G |
12: 17,015,557 (GRCm39) |
N818S |
probably benign |
Het |
| Ryk |
A |
T |
9: 102,758,854 (GRCm39) |
I248F |
possibly damaging |
Het |
| Setd2 |
A |
G |
9: 110,378,168 (GRCm39) |
Q661R |
possibly damaging |
Het |
| Siae |
T |
C |
9: 37,539,105 (GRCm39) |
V172A |
probably benign |
Het |
| Slc35f4 |
A |
G |
14: 49,556,377 (GRCm39) |
S9P |
unknown |
Het |
| Smg1 |
T |
C |
7: 117,795,179 (GRCm39) |
E456G |
unknown |
Het |
| Srgap3 |
C |
T |
6: 112,743,865 (GRCm39) |
A458T |
probably damaging |
Het |
| Tgfbrap1 |
T |
A |
1: 43,093,799 (GRCm39) |
R564S |
probably damaging |
Het |
| Usp15 |
A |
G |
10: 123,004,143 (GRCm39) |
Y204H |
probably damaging |
Het |
| Usp35 |
A |
G |
7: 96,962,276 (GRCm39) |
Y527H |
probably damaging |
Het |
| Usp8 |
T |
A |
2: 126,600,524 (GRCm39) |
*1092K |
probably null |
Het |
| Vmn2r73 |
A |
T |
7: 85,518,987 (GRCm39) |
M545K |
probably benign |
Het |
| Ylpm1 |
A |
T |
12: 85,080,689 (GRCm39) |
|
probably null |
Het |
| Zscan22 |
G |
T |
7: 12,641,130 (GRCm39) |
R458L |
probably damaging |
Het |
|
| Other mutations in Il18rap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00662:Il18rap
|
APN |
1 |
40,581,081 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01467:Il18rap
|
APN |
1 |
40,587,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01505:Il18rap
|
APN |
1 |
40,576,244 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02215:Il18rap
|
APN |
1 |
40,587,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03307:Il18rap
|
APN |
1 |
40,582,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
BB006:Il18rap
|
UTSW |
1 |
40,570,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB007:Il18rap
|
UTSW |
1 |
40,587,803 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB016:Il18rap
|
UTSW |
1 |
40,570,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB017:Il18rap
|
UTSW |
1 |
40,587,803 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0136:Il18rap
|
UTSW |
1 |
40,564,218 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0299:Il18rap
|
UTSW |
1 |
40,564,218 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0358:Il18rap
|
UTSW |
1 |
40,588,202 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0499:Il18rap
|
UTSW |
1 |
40,564,218 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0830:Il18rap
|
UTSW |
1 |
40,582,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Il18rap
|
UTSW |
1 |
40,570,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1817:Il18rap
|
UTSW |
1 |
40,570,687 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1818:Il18rap
|
UTSW |
1 |
40,570,687 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1819:Il18rap
|
UTSW |
1 |
40,570,687 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3721:Il18rap
|
UTSW |
1 |
40,576,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5634:Il18rap
|
UTSW |
1 |
40,578,536 (GRCm39) |
intron |
probably benign |
|
|
R5663:Il18rap
|
UTSW |
1 |
40,570,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5690:Il18rap
|
UTSW |
1 |
40,576,272 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5825:Il18rap
|
UTSW |
1 |
40,570,726 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6140:Il18rap
|
UTSW |
1 |
40,564,212 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6291:Il18rap
|
UTSW |
1 |
40,564,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6859:Il18rap
|
UTSW |
1 |
40,564,255 (GRCm39) |
nonsense |
probably null |
|
|
R6992:Il18rap
|
UTSW |
1 |
40,581,195 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7317:Il18rap
|
UTSW |
1 |
40,564,536 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7402:Il18rap
|
UTSW |
1 |
40,564,111 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7465:Il18rap
|
UTSW |
1 |
40,582,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7561:Il18rap
|
UTSW |
1 |
40,563,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7929:Il18rap
|
UTSW |
1 |
40,570,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7930:Il18rap
|
UTSW |
1 |
40,587,803 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8151:Il18rap
|
UTSW |
1 |
40,564,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8201:Il18rap
|
UTSW |
1 |
40,578,429 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8356:Il18rap
|
UTSW |
1 |
40,564,084 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8701:Il18rap
|
UTSW |
1 |
40,578,501 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8870:Il18rap
|
UTSW |
1 |
40,564,280 (GRCm39) |
splice site |
probably benign |
|
|
R8874:Il18rap
|
UTSW |
1 |
40,564,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8912:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8913:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8914:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8958:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8959:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9024:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9135:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9136:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9137:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9138:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9194:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9197:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9200:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9201:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9218:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9353:Il18rap
|
UTSW |
1 |
40,587,088 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9465:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9466:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9535:Il18rap
|
UTSW |
1 |
40,586,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATCAACCTGGCTCTCTAG -3'
(R):5'- ACTTTTCTCATGGGCTCTGG -3'
Sequencing Primer
(F):5'- CAACCTGGCTCTCTAGAGTTAATTG -3'
(R):5'- GCAGGAGGCATGTGAAATCAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation